LITAF Gene CMT1C NGS Genetic Test
Short Name: LITAF CMT1C NGS
Also known as: CMT1C Genetic Test, Charcot-Marie-Tooth Type 1C NGS Test, LITAF Gene Mutation Analysis, NGS LITAF Gene Test
LITAF Gene CMT1C NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Reports are generally available within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the LITAF gene that cause Charcot-Marie-Tooth disease type 1C, confirm a clinical diagnosis, and provide accurate genetic information for family counselling and risk assessment.
- Test Code
- 3959
- ICD Code
- G60.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Reports are generally available within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Please carry any previous neurological evaluation reports and clinical history documents.
Method: Venipuncture or FTA spot blood collection
Laboratory Analysis
A small blood sample will be collected by venipuncture. For FTA card, a one-drop blood sample is collected.
Report Delivery
No post-procedure restrictions. You can resume normal activities immediately.
Timeline: Reports are generally available within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the LITAF gene that cause Charcot-Marie-Tooth disease type 1C, confirm a clinical diagnosis, and provide accurate genetic information for family counselling and risk assessment.
How to Prepare
- No fasting is required for this test.
- You may drink water before sample collection.
- For whole blood: submit the sample in an EDTA vacutainer.
- For DNA: deliver the extracted DNA sample in a sterile tube.
- For FTA: apply one drop of blood on the FTA card and air-dry before transport.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Genetic counselling before testing helps assess inheritance patterns and supports informed decision-making."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or improperly labelled samples.
- Inadequate quantity of blood or DNA.
- Samples received in non-sterile or leaking containers.
- Samples without proper clinical history or consent form.
Understanding Your Results
Pathogenic or Likely Pathogenic variant detected
The result is consistent with a diagnosis of CMT1C in the appropriate clinical context.
Variant of Uncertain Significance (VUS) detected
The variant cannot be classified as disease-causing based on current evidence; additional genetic or family studies may be needed.
No pathogenic variant detected
No LITAF gene mutation was found. Other CMT genes or non-genetic causes should be considered.
Consult a neurologist or clinical geneticist if you or your child has progressive muscle weakness, sensory loss, foot deformities, or any family history of Charcot-Marie-Tooth disease.
Limitations
- ⚠This test targets coding regions and splice sites of the LITAF gene; deep intronic variants may not be detected.
- ⚠Large genomic rearrangements or copy number changes may not be reliably identified by this NGS approach.
- ⚠A variant of uncertain significance may require additional family studies.
- ⚠A negative result does not exclude all forms of Charcot-Marie-Tooth disease caused by other genes.
Risks & Considerations
- ●No significant medical risks: this is a non-invasive genetic test.
- ●Minor bruising or discomfort may occur at the blood collection site.
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Improper blood collection or mixing of EDTA tube
- ●Rare sequencing artifacts requiring confirmatory testing
- ●Presence of haematological malignancy or recent bone marrow transplantation when using whole blood DNA
Compare With Similar Tests
| Test | LITAF Gene CMT1C NGS Genetic Test | LITAF Gene CMT1C NGS Genetic Test | Comprehensive CMT NGS Panel |
|---|---|---|---|
| Comparison | LITAF Gene CMT1C NGS Genetic Test |
Frequently Asked Questions
What is the LITAF Gene CMT1C NGS Genetic Test?
What is CMT1C?
What are the symptoms of CMT1C?
How is a LITAF gene mutation inherited?
Who should consider this test?
What sample is required?
Do I need to fast before the test?
How long will it take to get the report?
What does a positive test result mean?
What does a negative test result mean?
Does this test detect all types of Charcot-Marie-Tooth disease?
Is this test covered by insurance?
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